先天性QT延長症候群 - MGenReviews

先天性QT延長症候群

疾患の紹介

病的バリアントリスト

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最新の情報は下記 URL でご確認いただけます (外部サイトへ移動します) 。

https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_000238.4(KCNH2):c.1689G>A (p.Trp563Ter)	KCNH2	Pathogenic	7	150648792	150648792	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA369858778
Indel	NM_000238.4(KCNH2):c.3088_3089delinsGGGTCTCCCG (p.Pro1030fs)	KCNH2	Pathogenic	7	150644479	150644480	GG	CGGGAGACCC	criteria provided, single submitter	-
single nucleotide variant	NM_000238.4(KCNH2):c.2398+2T>A	KCNH2	Pathogenic	7	150647254	150647254	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_000238.4(KCNH2):c.1848C>G (p.Tyr616Ter)	KCNH2	Pathogenic	7	150648633	150648633	G	C	criteria provided, single submitter	-
Deletion	NC_000007.14:g.(?_150959552)_(150959756_?)del	KCNH2	Pathogenic	7	150656640	150656844	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000238.4(KCNH2):c.1691T>A (p.Leu564Gln)	KCNH2	Likely pathogenic	7	150648790	150648790	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_000238.4(KCNH2):c.2931C>A (p.Cys977Ter)	KCNH2	Pathogenic	7	150644728	150644728	G	T	criteria provided, single submitter	-
Deletion	NC_000007.14:g.(?_150955988)_(150958464_?)del	KCNH2	Pathogenic	7	150653076	150655552	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000238.4(KCNH2):c.1755G>C (p.Trp585Cys)	KCNH2	Likely pathogenic	7	150648726	150648726	C	G	criteria provided, single submitter	-
Deletion	NM_000238.4(KCNH2):c.1132_1133del (p.Leu378fs)	KCNH2	Pathogenic	7	150649937	150649938	CAG	C	criteria provided, single submitter	-

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